Job Description Summary:
Under the direction of the Vice President of Informatics, the Variant Scientist will be transformational in bringing genomics data and analytics to the company. The Variant Scientist possesses deep oncology expertise to combine cancer knowledge and genomics related data to guide clinical practice and research programs. The Variant Scientist works cross functionally with informatics leadership, clinicians and diagnostic lab staff to provide guidance to clinical report generation, and integration of NGS data into clinical workflows, data warehouse and analytics platform(s), optimization of clinical trials.
Primary Key Performance Areas
KPA 1 – Variant Analysis and Reporting
- Work closely with Informatics, diagnostic lab staff, and clinical staff to improve adoption, analytics and reporting of next generation sequencing and related tests.
- Summarize somatic and inherited genetic test results and generate customized result reports.
- Utilize a variety of in-house and third-party software tools to research variant and write reports.
- Perform critical quality control functions for laboratory workflow and clinical reports
- Perform research on genes and novel sequence variants to determine clinical relevance
- Assist in variant classification based on emerging scientific information
- Analyze issues, processes and data; acts a liaison between clinicians and Information Systems to identify needs for changes in environment to promote best practice.
KPA 2 –Research and Clinical Trials
- Work closely with Informatics personnel, clinical data architect and data integration analysts to improve the quality, management and analytics of genomics and next-generation sequencing data.
- Identify opportunities, define and guide integration of genomics into clinical practice and research programs.
- Utilize existing systems, as well as in-house and third-party solutions to enable matching of patients to clinical trials.
- Assist in the design and implementation of next generation data platform, with a focus on genomics data integration, analytics to support internal research programs, as well as real world evidence studies, clinical trial control arms etc.
KPA 3 – Data Governance
- Domain understanding of data modeling, data warehousing, business intelligence, ELT development and ability to read, write, maintain and tune SQL queries.
- Critical thinking and logic skills with attention to details and ability to identify root cause for data anomalies and data quality issues.
- Engages with data stewards to collaboratively determine the data standards that will be used in our enterprise data warehouse for data consumption.
- Promotes governance first mindset to influence data integrity educational opportunities, process improvement and business requirements to drive tool selection and consolidation activities.
- Ph.D. or M.S in Cancer Genetics, Human Genetics, Biological Sciences, or a relevant quantitative discipline, e.g. bioinformatics, computational biology, statistical genetics, etc.
- 5+ years’ experience in a healthcare setting; Oncology experience strongly preferred.
- 3+ years’ experience in a diagnostic laboratory, CAP/CLIA compliance, clinical report writing.
- Familiarity with human mutation databases, oncology-specific variant databases, genome browsers, and HGVS nomenclature.
- Demonstrated attention to detail, excellent communication and writing skills.
- Proficient in a scripting language, preferably Python or R
- Data governance knowledge of industry best practice and leading software providers to assist in data steward implementation, maintenance and support.
- Familiarity with SSMS, SSRS, Power BI.
- Proficiency in MS Office Word, Excel, Power Point, and Outlook.